Conserved genes and pathways in primary human fibroblast strains undergoing replicative and radiation induced senescence

Additional file 3: Figure S3. Regulation of genes of Arrhythmogenic right ventricular cardiomyopathy pathway during senescence induction in HFF strains Genes of the “Arrhythmogenic right ventricular cardiomyopathy” pathway which are significantly up- (green) and down- (red) regulated (log2 fold change >1) during irradiation induced senescence (120 h after 20 Gy irradiation) in HFF strains. Orange color signifies genes which are commonly up-regulated during both, irradiation induced and replicative senescence

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field

Aspectos fonoaudiológicos na síndrome de Crouzon: estudo de caso Speech-language aspects on Crouzon syndrome: case study

TEMA: descrever os aspectos fonoaudiológicos de um caso de Síndrome de Crouzon, com idade de 6:4 anos, submetendo-o às avaliações das áreas de fala, linguagem, cognição, sistema estomatognático e audição. PROCEDIMENTOS: o sujeito foi submetido às seguintes avaliações: ABFW, Prova de Vocabulário Receptivo, Avaliação do Desenvolvimento de Linguagem-Cognição, Avaliação de Estruturas e Funções do Sistema Estomatognático, Audiometria Tonal Limiar, Imitanciometria e Logoaudiometria. RESULTADOS: a Audiometria Tonal identificou perda auditiva condutiva de grau moderado bilateralmente, apresentando compatibilidade com a Logoaudiometria e a Imitanciometria. A Avaliação de Sistema Estomatognático indicou tônus de estruturas diminuído, com postura e mobilidade alteradas. As funções de sucção, mastigação, deglutição e respiração mostraram-se alteradas. Na avaliação da Fonologia, identificaram-se simplificação do encontro consonantal, plosivação de fricativa e outros. Em Fluência, os dados estavam abaixo do esperado para a mesma faixa etária e sexo. Na prova de Pragmática o número de atos por minuto foi 14,4, apresentando como meio comunicativo predominante o gestual. Na prova de Vocabulário Receptivo, o valor total de designações usuais estava 7,1% abaixo do valor de referência. No Vocabulário Expressivo, os dados apontaram para referência entre 4 e 5 anos, abaixo dos parâmetros esperados para a idade do sujeito do estudo. Em Linguagem e Cognição, as análises indicaram defasagem em relação à fase de desenvolvimento. CONCLUSÃO: os comprometimentos causados pela síndrome são difusos e interligados, tendo a importância desse estudo apresentar os aspectos fonoaudiológicos de um caso de Síndrome de Crouzon e fornecer dados para aprofundar a investigação fonoaudiológica e o processo terapêutico.<br>BACKGROUND: to describe the results of speech, language, cognition, stomatognathic system and hearing assessments of a case of Crouzon syndrome at the age 6:4 years. PROCEDURE: the subject carried out the following evaluations: ABFW, Test of Receptive Vocabulary, Language-Cognition Development Evaluation, Evaluation of Structures and Functions of the Stomatognathic System, pure-tone audiometry threshold, immitance measures and vocal audiometry. RESULTS: the pure-tone audiometry identified bilateral moderate conductive hearing loss, compatible with vocal audiometry's and immitance measures' results. The stomatognathic system evaluation showed that the structures had reduced tonus and altered posture and mobility. Suction, chewing, deglutition and breathing functions were also altered. Phonologically, the following processes were identified: Cluster Simplification, Stopping of Fricatives and Others. In the Fluency evaluation, subject's performance was below the expected scores for matched age and gender. In the Pragmatics test, the child had 14.4 acts per minute and, predominantly, gestural communication. The Receptive Vocabulary Test showed scores 7.1% below reference. In the Expressive Vocabulary Test, data indicated a performance compatible to the reference values of 4 and 5 year-old children, below the expected scores for the subject's age. Regarding language and cognition, the analysis indicated a gap between the child's performance and the developmental level. CONCLUSION: the deficits caused by the syndrome are diffuse and interconnected. The present study had the aim to present the Speech-Language and Hearing Pathology associated aspects of a Crouzon syndrome case and to provide initial data to further investigate these aspects and the intervention process